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Journal of the Korean Society of Inherited Metabolic Disease
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4
  
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1
A Case of Epilepsy with Mental Retardation Limited to Females in a Patient with PCDH19 Mutation Conf
...
Kim Hyo-Jin
Yu Hee-Joon
Journal of the Korean Society of Inherited Metabolic Disease
2019 Volume.19 No.1 26 ~ 30
2
A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acy
...
Sohn Young-Bae
Ahn Sun-Hyun, Jang Ja-Hyun, Lee Sae-Mi
Journal of the Korean Society of Inherited Metabolic Disease
2019 Volume.19 No.1 20 ~ 25
3
Somatic Cell Analysis and Cobalamin Responsiveness Study in Ten Korean Patients with Methylmalonic A
...
Lim Han-Hyuk
Song Wung-Joo, Kim Gu-Hwan, Watkins David, Rosenblatt David S., Kim Yoo-Mi, Chang Mea-Young,&nb
...
Journal of the Korean Society of Inherited Metabolic Disease
2019 Volume.19 No.1 12 ~ 19
4
Evaluation of the Congenital Hypothyroidism for Newborn Screening Program in Korea: A 14-year Retros
...
Yoon Hye-Ran
Ahn Sun-Hyun, Lee Hyang-Ja
Journal of the Korean Society of Inherited Metabolic Disease
2019 Volume.19 No.1 1 ~ 11